Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder characterized by the development of an immune response directed against any part of the host body.The aim of the study is to analyze the association between TLR7 gene polymorphisms and systemic lupus erythematosus susceptibility and its association with various clinical and laboratory data of the patients. In this study genotyping of Toll like receptor gene-7rs (3853839) by real time Polymerase Chain Reaction Allelic discrimination revealed that, the wild genotype of TLR7 gene rs (3853839) (CC genotype) was detected in 20/50 (40%) of cases, and in 33/50(66%) of the controls. The minor genotypes of TLR7gene rs(3853839) (CG & GG genotypes) were detected in 26/50 (52%) and 4/50(8%) of cases respectively, and in 6/50 (12%) and 11/50 (22%) of the controls respectively. A statistical significant difference could be elicited between the two groups as regards genotyping distribution P value =0.001 The SLE patients were classified according to the different TLR7 rs (3853839) genotypes into 2 distinct groups: the wild (C/C) genotype group which included 20 patients, the polymorphic (C/G, G/G) genotypes group which included 30 patients. These 2 groups were compared as regards clinical and laboratory data: There was no statistical significance between both groups. While Comparison between the 2 groups revealed a statistically significant difference as regarding the presence of nephritis p value= 0.021

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